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Genetic Disorder Seminar
Disorders
In pairs, you will pick a genetic disorder from the following list:
Cystic Fibrosis / Huntington’s Disease / Neurofibromatosis / Hemophilia / Fragile X Syndrome / TaySachs Disease / Phenylketonuria / Sickle Cell Disease / Hemochromatosis / Achondroplasia / Klinefelter
Syndrome / Duchenne Muscular Dystrophy / Crohn’s Disease / Autism Spectrum Disorders / Marfan
Syndrome / Prader-Willi Syndrome / Colorblindness / Polycystic Kidney Disorder / Holoprosencephaly
Only one student or pair can do each disease, so it is first come, first serve!
Research
You will need to research:
 General background information about the disease
o Who does the disease affect? Any other names for this disease?
o History or prevalence in populations? Interesting anecdotes a plus 
 Symptoms of the disease
 Cause of the disease
o What gene or genes are involved? Is it a mutation? Describe the mutation.
o How is it inherited? (sex-linked, autosomal, dominant, recessive)
o What actually makes them sick? Which protein is or is not produced as a result of the
mutation? Is there a missing enzyme? Describe the molecular nature of the symptoms.
 Treatment/cure for the disease
o Is there medicine to treat the disease? Is there a cure for the disease?
You will summarize this information in a paper. The paper should be double spaced, Times New Roman
size 12, and in APA format. It should be about 1 page but no longer than 2 pages. You must include
citations for the resources in APA format, including in-text citations and bibliography.
Seminar
In class next week we will have a seminar, which will look more like a class discussion. The purpose of
this discussion is for everyone to learn about the disorders in a conversational manner.
Discussion prompts will look something like this:
 Do you have a personal story or connection to this disorder? Explain.
 What’s the most interesting thing about your disorder?
 What disorder impacts underprivileged populations the most? Children? Senior citizens?
 Does this disorder coincide with other disorders? Are there environmental influences?
 Discuss the severity of the disorder: how manageable is it to live with? Are there intense
treatment programs or no treatment available?
 Is your disorder heavily studied or obscure? Are there treatment options available or no?
Article
While we discuss these disorders, your peers will need a visual for reference. Thus, you will fill out the
google form (posted to my blog) with a short summary and a picture. This summary can be no more
than 700 characters, with spaces. The “articles” will be collected and put into a newsletter.
Due Dates
The Seminar will be on Tuesday, January 31st
The paper is due on Seminar day.
The summary is due by Friday, January 27th
Grading
You will be graded based on the rubric provided below.
Genetic Disorder Seminar Rubric
Write Up (50 points total)
20
Research. All questions on the background, symptoms, and
treatment are answered fully.
20
Research. The molecular details, including genetic cause and
biochemical results are expressed completely and clearly.
10
Format. Research is 1-2 pages, double spaced. Sources are cited in
correct APA format.
Article (30 points total)
20
10
Summary. All facts are succinctly summarized in an interesting,
intriguing manner suitable for a newsletter. The summary is no
longer than 700 words.
Picture. An appropriate picture is provided.
Seminar (20 points total)
20
Total (100 pts)
Discussion. At least one of the partners contributes to class
discussion. Their comments teach others about the disorder by
engaging facts and anecdotes.
Research Resources
http://learn.genetics.utah.edu/content/disorders/
This website from the Genetic Science Learning Center at the University of Utah provides information about
single-gene disorders, chromosome abnormalities, and multifactorial disorders. Links are provided to pages with
information about several different disorders including Cri-du-Chat syndrome, Down syndrome, Huntington’s
disease, Phenylketonuria, Cystic Fibrosis and others.
http://en.wikipedia.org/wiki/List_of_genetic_disorders
This website includes a very thorough list of genetic disorders and provides links to the Wikipedia page that
discusses the disorder. This site should be used primarily to pick a genetic disorder to research.
http://www.noah-health.org/en/genetic/
The New York Online Access to Health website provides general background information about genetic
disorders. On the right hand side of the homepage is a list of genetic disorders. Each link takes you to a page
dedicated to that disease and provides several links to websites about that disorder.
http://www.ygyh.org/
Your Genes, Your Health has basic information about several common genetic disorders including Hemophilia
and Cystic Fibrosis. There are also video clips and animations provided that explain information about what
causes the disease, how it is inherited, and how it is treated.
http://www.genome.gov/10001204
This is the genetic disorder page from the National Human Genome Research Institute. A list of several genetic
disorders is provided that includes some of the genetically linked cancers. Clicking on a disease takes you to an
information page about the disorder that includes general information about symptoms, diagnosis, and
treatment, and also information about current research being conducted about the disorder.
http://www.acog.org/publications/patient_education/bp094.cfm
The American Congress of Obstetricians and Gynecologists website includes information about the different
types of genetic disorders: dominant, recessive, x-linked, chromosomal, and multifactorial. It also discusses the
different tests that can be done to determine if a fetus has a genetic disorder.
http://www.kumc.edu/gec/support/
This website about Genetic and Rare Conditions is provided by the University of Kansas Medical Center. On this
sites are links to several genetic disorders. On the individual disorder website you will find information and links
to organizations dedicated to the disorder.
http://www.jewishgenetics.org/
The Chicago Center for Jewish Genetic Disorders provides information about genetic disorders that are more
common in people of Jewish descent. These diseases include Canavan Disease and Tay-Sachs Disease.
http://www.specialchild.com/disorder.html
The Disorder Zone provides links to several genetic disorders. On the individual genetic disorder pages, you will
find general information about the disease as well as personal stories about children who have the disorder.
http://ghr.nlm.nih.gov/
The Genetics Home Reference is an excellent website that includes information about thousands of genetic
disorders in addition to information about the genes and chromosomes that cause the disorders and information
to help understand human genetics.